Canonical Allele Identifier: CA431234236

Gene: CYP27A1

Linked Data

• MyVariant Identifiers: chr2:g.219678890T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814167T>G , CM000664.2:g.218814167T>G	GRCh38
NC_000002.11:g.219678890T>G , CM000664.1:g.219678890T>G	GRCh37
NC_000002.10:g.219387134T>G	NCBI36
NG_007959.1:g.37419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1164T>G MANE Select	ENSP00000258415.4:p.Ala388=
ENST00000258415.8:c.1164T>G	ENSP00000258415.4:p.Ala388=
ENST00000494263.5:n.1598T>G
NM_000784.3:c.1164T>G	NP_000775.1:p.Ala388=
XM_017003488.2:c.744T>G	XP_016858977.1:p.Ala248=
NM_000784.4:c.1164T>G MANE Select	NP_000775.1:p.Ala388=